Craniorhiny

{{Infobox medical condition

|name = Craniorhiny

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Craniorhiny is a rare autosomal dominant syndrome characterized by craniosynostosis (oxycephaly) and facial anomalies around the nose base and lips.{{Cite web |title=Craniorhiny (Concept Id: C1852501) |url=https://www.ncbi.nlm.nih.gov/medgen/338944 |access-date=2023-09-16 |website=www.ncbi.nlm.nih.gov |language=en}}{{Cite web |title=180360 - RHINY |url=https://www.omim.org/entry/180360 |access-date=2023-09-16 |website=www.omim.org |language=en-us}}

Signs and symptoms

Features of this condition include:{{Cite web |title=Clinical Synopsis - 123050 - CRANIORHINY - OMIM |url=https://omim.org/clinicalSynopsis/123050?highlight=A |access-date=2023-09-16 |website=omim.org}}

  • Head or neck: anteverted nares, wide nose, recessed forehead
  • Integument: nasal hirsutism
  • Musculoskeletal system: craniosynotosis, oxycephaly/turricephaly

Infranasal spherical cyst-like formations with fistulas have also been seen.

History

The first (and only confirmed) reports of this condition was made in 1991, seen in a father and son. Two siblings reported in 2007 are also speculated to have the condition.

References

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Category:Rare diseases

Category:Syndromes

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